R42Q (p.Arg42Gln) variant of NFE2L2 (Q16236)
R42Q (p.Arg42Gln) in NFE2L2 (Q16236) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
R42Q (p.Arg42Gln) variant details
- p.Arg42Gln
- cosmic curated COSV67961
- TOPMed rs1168551006
- gnomAD rs1168551006
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.48
- REVEL 0.26
- CADD 27.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available